SPONDYLOEPIPHYSEAL DYSPLASIA IN A CAPE-TOWN FAMILY - LINKAGE WITH THE GENE FOR TYPE-II COLLAGEN (COL2A1)

被引：12
|
作者：
RAMESAR, R [1 ]
BEIGHTON, P [1 ]
机构：
[1] UNIV CAPE TOWN,SCH MED,DEPT HUMAN GENET,INHERITED SKELETAL DISORDERS RES UNIT,MRC,RONDEBOSCH 7700,SOUTH AFRICA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 05期
关键词：
AUTOSOMAL DOMINANT; CARTILAGE; GENETIC LINKAGE; MOLECULAR LINKAGE; SKELETAL DYSPLASIA;
D O I：
10.1002/ajmg.1320430516
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A moderately severe form of autosomal dominant (AD) spondyloepiphyseal dysplasia (SED) has been documented in 14 individuals in 3 generations of a family in Cape Town, South Africa. Affected persons had a short trunk; radiographic investigations indicated that skeletal involvement was worst in the hips and spine. Linkage studies with restriction fragment length polymorphisms (RFLPs) associated with the COL2A1 gene and the phenotype yielded a maximal LOD score of 4.51 at theta = 0.00. This result suggests that the structural locus for type II collagen is primarily involved in the pathogenesis of this form of SED.
引用
收藏
页码：833 / 838
页数：6
相关论文
共 50 条
  • [21] 5 NEW COL2A1 MUTATIONS IN THE TYPE-II COLLAGEN DISORDERS
    MORTIER, GR
    WILKIN, DJ
    FERNANDES, R
    EYRE, D
    RIMOIN, DL
    COHN, DH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1277 - 1277
  • [22] SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (SEDC) - EVIDENCE FOR GENETIC-LINKAGE TO THE COL2A1 LOCUS
    ANDERSON, IJ
    MARION, RW
    GOLDBERG, RB
    UPHOLT, WB
    TSIPOURASL, P
    PEDIATRIC RESEARCH, 1989, 25 (04) : A138 - A138
  • [23] A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
    Zhou, Tangjun
    Yang, Xiao
    Chen, Zhiqian
    Zhou, Yifan
    Cao, Xiankun
    Zhao, Changqing
    Zhao, Jie
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2021, 35 (04)
  • [24] Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family
    Dikaiakou, Eirini
    Vlachopapadopoulou, Elpis A.
    Manolakos, Emanouil
    Samelis, Panagiotis
    Margariti, Rodanthi
    Zampakides, Christos
    Michalacos, Stefanos
    MOLECULAR SYNDROMOLOGY, 2018, 9 (05) : 241 - 246
  • [25] Retraction Note: Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenital
    Hongzhuo Li
    Liang Ma
    Baozhu Wang
    Yun Cui
    Tao Xiao
    European Spine Journal, 2021, 30 : 3775 - 3775
  • [26] LINKAGE ANALYSIS OF THE TYPE-II COLLAGEN GENE (COL2A1) AND HEREDITARY ARTHRO-OPHTHALMOPATHY (AOM) IN 3 LARGE FAMILIES
    WEAVER, EJ
    KING, RA
    NORRIS, K
    KNOBLOCH, WH
    SHAMBAN, A
    JIMENEZ, SA
    PROCKOP, DJ
    KNOWLTON, RG
    CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4): : 1103 - 1103
  • [27] RETRACTED ARTICLE: Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita
    Hongzhuo Li
    Liang Ma
    Baozhu Wang
    Yun Cui
    Tao Xiao
    European Spine Journal, 2015, 24 : 1813 - 1819
  • [28] THE HUMAN TYPE-II COLLAGEN GENE (COL2A1) ASSIGNED TO 12Q14.3
    LAW, ML
    TUNG, L
    MORSE, HG
    BERGER, R
    JONES, C
    CHEAH, KSE
    SOLOMON, E
    ANNALS OF HUMAN GENETICS, 1986, 50 : 131 - 137
  • [29] REGIONAL ASSIGNMENT OF THE HUMAN TYPE-II COLLAGEN GENE (COL2A1) ON CHROMOSOME-12
    LAW, ML
    TUNG, L
    MORSE, HG
    BERGER, R
    JONES, C
    CHEAH, KSE
    STOKER, NG
    SOLOMON, E
    CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4): : 678 - 678
  • [30] STRUCTURAL AND SEGREGATION ANALYSIS OF THE TYPE-II COLLAGEN GENE (COL2A1) IN SOME HERITABLE CHONDRODYSPLASIAS
    WORDSWORTH, P
    OGILVIE, D
    PRIESTLEY, L
    SMITH, R
    WYNNEDAVIES, R
    SYKES, B
    JOURNAL OF MEDICAL GENETICS, 1988, 25 (08) : 521 - 527
12345